A Quick Guide to Metabolic Disease Testing Interpretation: Testing for Inborn Errors of Metabolism
Autor Patricia Jones, Khushbu Patel, Dinesh Rakhejaen Limba Engleză Paperback – 4 aug 2020
- Includes pathway diagrams and representative compound scans of important diagnostic compounds
- Provides illustrative chromatographs from selected disorders to aid in diagnosing common inborn errors of metabolism
- Highlights brief descriptions of the etiology and clinical presentation of each presented disorder
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Specificații
ISBN-13: 9780128169261
ISBN-10: 0128169265
Pagini: 220
Ilustrații: 50 illustrations (35 in full color)
Dimensiuni: 152 x 229 mm
Ediția:2
Editura: ELSEVIER SCIENCE
ISBN-10: 0128169265
Pagini: 220
Ilustrații: 50 illustrations (35 in full color)
Dimensiuni: 152 x 229 mm
Ediția:2
Editura: ELSEVIER SCIENCE
Public țintă
Laboratory pathologists, clinical chemists, and geneticists; practicing clinicians, fellows and residents in pathology, internal medicine, and family practiceCuprins
Section 1 Introduction1. Introduction
Section 2 Organic acidurias2. Disorder: Glutaric acidemia type 13. Disorder: Glutaric acidemia type 24. Disorder: 2-Hydroxyglutaric aciduria5. Disorder: Isovaleric aciduria6. Disorder: 2-Methylbutyrylglycinuria7. Disorder: 3-Methylcrotonyl-CoA-carboxylase deficiency8. Disorder: 3-Methyglutaconic aciduria9. Disorder: Methylmalonic aciduria10. Disorder: Propionic acidemia11. Disorder: Succinic semialdehyde dehydrogenase deficiency
Section 3 Urea cycle defects12. Disorder: Arginase deficiency13. Disorder: Argininosuccinic acidemia14. Disorder: Carbamyl phosphate synthetase 1 deficiency and N-acetylglutamate synthase deficiency15. Disorder: Citrullinemia and citrin deficiency16. Disorder: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome17. Disorder: Ornithine transcarbamylase deficiency
Section 4 Disorders of amino acid metabolism18. Disorder: β-Ketothiolase deficiency19. Disorder: Lysinuric protein intolerance20. Disorder: Maple syrup urine disease21. Disorder: Glycine encephalopathy22. Disorder: Phenylketonuria23. Disorder: Tyrosinemia type 124. Disorder: Tyrosinemia types 2 and 3
Section 5 Fatty acid oxidation defects25. Disorder: Carnitine-acylcarnitine translocase deficiency26. Disorder: Carnitine palmitoyltransferase 1 deficiency27. Disorder: Carnitine palmitoyltransferase 2 deficiency28. Disorder: Carnitine transporter deficiency29. Disorder: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency30. Disorder: Medium-chain acyl-CoA dehydrogenase deficiency31. Disorder: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency32. Disorder: Very long chain acyl CoA dehydrogenase deficiency
Section 6 Other metabolic disorders33. Disorder: Biotin: Biotinidase deficiency and holocarboxylase synthetase deficiency34. Disorder: Canavan Disease35. Disorder: Dihydropyrimidine dehydrogenase deficiency36. Disorder: Glutathione synthetase deficiency37. Disorder: Pyruvate dehydrogenase deficiency
Section 2 Organic acidurias2. Disorder: Glutaric acidemia type 13. Disorder: Glutaric acidemia type 24. Disorder: 2-Hydroxyglutaric aciduria5. Disorder: Isovaleric aciduria6. Disorder: 2-Methylbutyrylglycinuria7. Disorder: 3-Methylcrotonyl-CoA-carboxylase deficiency8. Disorder: 3-Methyglutaconic aciduria9. Disorder: Methylmalonic aciduria10. Disorder: Propionic acidemia11. Disorder: Succinic semialdehyde dehydrogenase deficiency
Section 3 Urea cycle defects12. Disorder: Arginase deficiency13. Disorder: Argininosuccinic acidemia14. Disorder: Carbamyl phosphate synthetase 1 deficiency and N-acetylglutamate synthase deficiency15. Disorder: Citrullinemia and citrin deficiency16. Disorder: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome17. Disorder: Ornithine transcarbamylase deficiency
Section 4 Disorders of amino acid metabolism18. Disorder: β-Ketothiolase deficiency19. Disorder: Lysinuric protein intolerance20. Disorder: Maple syrup urine disease21. Disorder: Glycine encephalopathy22. Disorder: Phenylketonuria23. Disorder: Tyrosinemia type 124. Disorder: Tyrosinemia types 2 and 3
Section 5 Fatty acid oxidation defects25. Disorder: Carnitine-acylcarnitine translocase deficiency26. Disorder: Carnitine palmitoyltransferase 1 deficiency27. Disorder: Carnitine palmitoyltransferase 2 deficiency28. Disorder: Carnitine transporter deficiency29. Disorder: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency30. Disorder: Medium-chain acyl-CoA dehydrogenase deficiency31. Disorder: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency32. Disorder: Very long chain acyl CoA dehydrogenase deficiency
Section 6 Other metabolic disorders33. Disorder: Biotin: Biotinidase deficiency and holocarboxylase synthetase deficiency34. Disorder: Canavan Disease35. Disorder: Dihydropyrimidine dehydrogenase deficiency36. Disorder: Glutathione synthetase deficiency37. Disorder: Pyruvate dehydrogenase deficiency
Recenzii
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